Validation of the Utility of the Genetically Shared Regions of Chromosomes (GD-ICS) Measuring Method in Identifying Complicated Genetic Relatedness.

Background: Relatives share more genomic regions than unrelated individuals, with closer relatives sharing more regions. This concept, paired with the increased availability of high-throughput single nucleotide polymorphism (SNP) genotyping technologies, has made it feasible to measure the shared chromosomal regions between individuals to assess their level of relation to each other. However, such techniques have remained in the conceptual rather than practical stages in terms of applying measures or indices.

Duration of osteoporosis treatment to reduce the risk of subsequent osteoporotic fracture and all-cause mortality in elderly hip fracture patients in a Korean real-world study.

Unlabelled: This study aimed to evaluate the association between treatment duration of osteoporosis medications and clinical outcomes of patients with hip fracture. We found that the risk of subsequent osteoporotic fractures and all-cause mortality showed a decreasing trend as the treatment duration of osteoporosis medications increased.

Purpose: To assess the risk of subsequent osteoporotic fracture (SOF) and all-cause mortality (ACM) in elderly patients with hip fracture in South Korea and to evaluate the potential reduction in the risk of SOF and ACM with varying durations of osteoporosis treatment.

A novel approach of kinship determination based on the physical length of genetically shared regions of chromosomes.

Background: Determination of genetic relatedness between individuals plays a crucial role in resolving numerous civil cases involving familial relationships and in forensic investigation concerning missing persons. Short tandem repeats (STRs), known for their high degree of DNA polymorphism, have traditionally been the primary choice of DNA markers in genetic testing, but their application for kinships testing is limited to cases involving close kinship. SNPs have emerged as promising supplementary markers for kinship determination.

Ceramic-on-Ceramic or Metal-on-Polyethylene: The Bearing of Choice after Ceramic Component Fracture in Total Hip Arthroplasty along with Concise Follow-Up of the Previous Cohort.

Objective: We previously reported the questionable result of reoperation using metal-on-polyethylene (MoP) bearing after the fracture of the ceramic component. After the report, we abandoned the use of MoP; instead, we used ceramic-on-ceramic (CoC) bearing. This report aimed to present the outcome of reoperation to CoC bearing after ceramic component failures along with the longer-term outcome of the previously reported cohort with an MoP bearing.

Comparison of Two Variant Analysis Programs for Next-Generation Sequencing Data of Whole Mitochondrial Genome.

Background: With advance of next-generation sequencing (NGS) techniques, the need for mitochondrial DNA analysis is increasing not only in the forensic area, but also in medical fields.

Methods: Two commercial programs, Converge Software (CS) and Torrent Variant Caller for variant calling of NGS data, were compared with a considerable amount of sequence data of 50 samples with a homogeneous ethnicity.

Results: About 2,300 variants were identified and the two programs showed about 90% of consistency.

DNA methylome profiling of blood to identify individuals in a pair of monozygotic twins.

Background: Short tandem repeat (STR) markers cannot be used to distinguish between genetically identical monozygotic (MZ) twins, causing problems in a case with an MZ twin as a suspect. Many studies have shown that in older MZ twins, there are significant differences in overall content and genomic distribution of methylation.

Objective: In this study, we analyzed the DNA methylome profile of blood to identify recurrent differentially methylated CpG sites (DMCs) to discriminate between MZ twins.

Biogeographic origin and genetic characteristics of the peopling of Jeju Island based on lineage markers.

Background: Jeju Island is the largest island of South Korea, located southwest far from the mainland of Korea, and has a unique history and its own cultures that are distinguished from those of the other regions of the Korean mainland. However, the Jeju population has not been deeply investigated to date to understand their genetic structure, which may reflect their historical and geographical background.

Objective: To identify the genetic characteristics and biogeographic origin of people of Jeju Island based on the statistical analysis of genetic data using lineage markers.

Whole Mitochondrial Genome Analysis in Non-Small Cell Lung Carcinoma Reveals Unique Tumor-Specific Somatic Mutations.

Context.—: Mitochondria and mitochondrial DNA have been suggested to play a role in cancer initiation and progression. Knowledge of mitochondrial DNA could provide a breakthrough to advance cancer management.

Revealing Joseon period People's single nucleotide polymorphism associated with lactase gene by ancient DNA analysis of human remains from archaeological sites in Korea.

Lactase non-persistence (LNP), one of the causes of lactose intolerance, is related to lactase gene associated single nucleotide polymorphisms (SNPs). Since the frequency of LNP varies by ethnic group and country, the research to reveal the presence or absence of LNP for specific people has been conducted worldwide. However, in East Asia, the study of lactase gene associated SNPs have not been sufficiently examined so far using ancient human specimens from archaeological sites.

The effect of tranexamic acid in open reduction and internal fixation of pelvic and acetabular fracture: A systematic review and meta-analysis.

Background: Pelvic bone fractures may cause extensive bleeding; however, the efficacy of tranexamic acid (TXA) usage in pelvic fracture surgery remains unclear. In this systematic review and meta-analysis, we aimed to evaluate the efficacy of TXA in open reduction and internal fixation surgery for pelvic and acetabular fracture.

Methods: MEDLINE, Embase, and Cochrane Library databases were systematically searched for studies published before April 22, 2020, that investigated the effect of TXA in the treatment of pelvic and acetabular fracture with open reduction and internal fixation.

High Risk of Neck-liner Impingement and Notching Observed with Thick Femoral Neck Implants in Ceramic-on-ceramic THA.

Background: Recently, impingement between the femoral stem and ceramic liner, which appears as a notch in the stem neck on radiographs, has emerged as a new complication. However, the proportion of impingement, potential risk factors, and related complications are poorly elucidated.

Question/purposes: In patients who underwent ceramic-on-ceramic (CoC) THA and had at least 10 years of follow-up, we asked: (1) What proportion had radiographic evidence of stem neck-ceramic liner impingement (notching of the stem), and what implant design, implantation factors, or complications such as ceramic fracture or metallosis are associated with impingement? (2) How common are the complications of noise and ceramic fracture? (3) What are the radiologic changes (including fixation of femoral and acetabular components, osteolysis, and heterotopic ossification) and clinical outcomes as determined by the modified Harris hip score (mHHS) for this cohort? (4) What is the survivorship with implant revision as the endpoint and with reoperation for any reason as the endpoint after CoC THA using a thick-neck stem design?

Methods: Between May 2003 and April 2010, 643 patients underwent primary THA at a tertiary referral hospital.

Safety of a single intra-articular injection of LBSA0103 hyaluronic acid in patients with osteoarthritis of the knee: a multicenter, single-arm, prospective, cohort study.

Objective: LBSA0103 is a recently developed high-molecular-weight, cross-linked, non-animal hyaluronic acid (HA). The safety of LBSA0103 has been investigated only in a limited number of patients, therefore this prospective study was designed. This study sought to assess the safety including injection-site reactions and adverse drug reactions after a single intra-articular injection of LBSA0103 in patients with osteoarthritis (OA) of the knee joint.

Culture-Expanded Autologous Adipose-Derived Mesenchymal Stem Cell Treatment for Osteonecrosis of the Femoral Head.

Backgroud: Outcomes of traditional treatment for osteonecrosis of the femoral head (ONFH) are not always satisfactory. Hence, cell-supplementation therapy has been attempted to facilitate necrotic-tissue regeneration. Adipose-derived mesenchymal stem cell (ADMSC) transplantation is potentially advantageous over bone marrow-derived MSC implantation, but its outcomes for ONFH remain unclear.

Incarcerated diaphragmatic hernia after right hepatectomy: an autopsy case with a review of 45 previous cases.

An iatrogenic diaphragmatic hernia after major hepatic resection is a rare complication. Incarceration of the abdominal organ through a diaphragmatic defect can have a fatal prognosis. Here, we report a case of incarcerated diaphragmatic hernia after right hepatectomy, which was diagnosed only after the autopsy.

Arthroscopy versus nonoperative treatment of symptomatic femoroacetabular impingement syndrome: A systematic review and meta-analysis.

Background: Presently, hip arthroscopy is a widely adopted surgical intervention for the treatment of femoroacetabular impingement (FAI). However, there is insufficient evidence regarding which between arthroscopy and nonoperative treatment is more optimal for symptomatic FAI.

Methods: MEDLINE, Embase, Web of Science, and the Cochrane Library were systematically searched for studies that compared arthroscopy and nonoperative interventions for FAI treatment from inception to August 4, 2020.

Low prevalence of radiographic hip osteoarthritis and its discordance with hip pain: A nationwide study in Korea.

Aim: This study aimed to evaluate the prevalence and associated factors of radiographic hip osteoarthritis (OA) in the Korean community-dwelling population.

Methods: This study included 11 814 individuals (5025 men and 6789 women) ≥50 years of age from the Korea National Health and Nutrition Examination Surveys. Radiographic hip OA was defined as having a Kellgren-Lawrence grading scale score ≥2.

Outcome of Ceramic-on-Ceramic Total Hip Arthroplasty with 4th Generation 36 mm Head Compared to that with 3rd Generation 28 mm Head by Propensity Score Matching.

Background: With the development of 4th generation ceramic bearing, the large ceramic head is available for ceramic-on-ceramic total hip arthroplasty (THA). This retrospective study aimed to compare the outcomes of ceramic-on-ceramic THA with 4th generation 36 mm head to those with 3rd generation 28 mm head using propensity score matching.

Methods: We retrospectively reviewed the results of 133 ceramic-on-ceramic THAs with 4th generation 36 mm ceramic head in 129 patients and 133 ceramic-on-ceramic THAs identified from 405 ceramic-on-ceramic THAs with 3rd generation 28 mm head by propensity score matching.

A novel arthroscopic classification of labral tear in hip dysplasia.

Background: Acetabular labral tears cause of pain in patients with symptomatic hip dysplasia. To date, no structured grading system has been developed to evaluate labral tears in these patients. The present study describes a new system of grading labral tears in patients with acetabular dysplasia.

The diagnostic value of SPECT/CT in predicting the occurrence of osteonecrosis following femoral neck fracture: a prospective cohort study.

Backgrounds: One of the most significant complications after a femoral neck fracture is osteonecrosis of the femoral head (ONFH). The concomitant use of single-photon emission computed tomography (SPECT) with computed tomography (CT) increases the sensitivity for detecting the anatomic location and severity of ONFH. In this study, we evaluated the diagnostic value of SPECT/CT for the occurrence of ONFH by quantifying the perfusion status of the femoral head.

Improved STR analysis of degraded DNA from human skeletal remains through in-house MPS-STR panel.

DNA analysis of degraded samples and low-copy number DNA derived from skeletal remains, one of the most challenging forensic tasks, is common in disaster victim identification and genetic analysis of historical materials. Massively parallel sequencing (MPS) is a useful technique for STR analysis that enables the sequencing of smaller amplicons compared with conventional capillary electrophoresis (CE), which is valuable for the analysis of degraded DNA. In this study, 92 samples of human skeletal remains (70+ years postmortem) were tested using an in-house MPS-STR system designed for the analysis of degraded DNA.

A case of 46,XX/46,XX chimerism in a phenotypically normal woman.

Chimerism is the presence of two genetically different cell lines within a single organism, which is rarely observed in humans. Usually, chimerism in the human body is revealed by the finding of an abnormal phenotype during a medical examination or is unexpectedly detected in routine genetic analysis. However, the incidence or underlying mechanism of chimerism remains unclear due to the lack of information on this infrequent biological event.

Large-scale identification of human bone remains via SNP microarray analysis with reference SNP database.

Single nucleotide polymorphisms (SNPs) are valuable markers complementary to conventional forensic short tandem repeat (STR) markers in genetic typing, with potential advantages in challenging forensic casework. With the advent of high-throughput technologies, such as microarrays and massively parallel sequencing, the use of SNP typing has now expanded to large-scale forensic applications. Herein, a forensic case is presented to demonstrate the usefulness of SNP typing in identifying large-scale human bone remains with reference database construction.

The Effect of Povidone-Iodine Lavage in Preventing Infection After Total Hip and Knee Arthroplasties: Systematic Review and Meta-Analysis.

Background: Dilute povidone-iodine (PI) lavage, a simple disinfection method, could reduce postoperative infection risk. However, there is no clinical consensus regarding its efficacy in total joint arthroplasties (TJAs). This systematic review and meta-analysis evaluated PI lavage's efficacy in preventing infection after TJA.